Chromosome Abnormalities and Genetic CounselingChromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action. |
Contents
PARENT WITH A CHROMOSOMAL ABNORMALITY | 65 |
VARIANTS | 255 |
NORMAL PARENTS WITH A CHROMOSOMALLY ABNORMAL CHILD | 275 |
DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING | 349 |
REPRODUCTIVE FAILURE | 375 |
PRENATAL DIAGNOSIS | 401 |
NOXIOUS AGENTS | 487 |
APPENDIXES | 499 |
| 511 | |
| 619 | |
Other editions - View all
Chromosome Abnormalities and Genetic Counseling R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer No preview available - 2012 |
Common terms and phrases
abnormal amniocentesis analysis aneuploidy apparently associated autosomal balanced birth blood breakpoint carrier cause cells child chromosome chromosome abnormalities clinical complex conception couples cytogenetic daughter defect deletion described disomy duplication earlier effect embryos et al example female fertility fetal Figure FISH function gamete gene genomic gonadal heterozygote homolog human identified imbalance increased individuals infertility insertion inversion involving JMed Genet karyotype lead loss major male maternal meiotic mental molecular mosaicism mother mutation normal noted novo observed ofthe origin outcome parent partial patients phenotype placenta possible pregnancy prenatal diagnosis PrenatDiagn present presumably produce rare rearrangement recombination recorded recurrence reflect region respectively result retardation ring risk sampling screening seen segment segregation severe short showed similar sperm syndrome Table testing tion tissue translocation trisomy typically unbalanced women